Incidental Mutation 'R0394:Clstn1'
| ID |
31845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clstn1
|
| Ensembl Gene |
ENSMUSG00000039953 |
| Gene Name |
calsyntenin 1 |
| Synonyms |
Cst-1, alcadein alpha, calsyntenin-1, 1810034E21Rik |
| MMRRC Submission |
038600-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0394 (G1)
|
| Quality Score |
161 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
149670925-149733356 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 149728635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 687
(D687G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038859]
[ENSMUST00000039144]
[ENSMUST00000105690]
[ENSMUST00000105691]
[ENSMUST00000118704]
[ENSMUST00000122059]
[ENSMUST00000177654]
|
| AlphaFold |
Q9EPL2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038859
|
| SMART Domains |
Protein: ENSMUSP00000036434
Gene: ENSMUSG00000039936
| Domain | Start | End | E-Value | Type |
|---|
|
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
|
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
|
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
|
PI3Ka
|
496 |
685 |
8.56e-87 |
SMART |
|
PI3Kc
|
776 |
1042 |
5.65e-128 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039144
AA Change: D697G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000036962
Gene: ENSMUSG00000039953
AA Change: D697G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
59 |
162 |
1.25e-11 |
SMART |
|
CA
|
185 |
263 |
1.03e-3 |
SMART |
|
Pfam:Laminin_G_3
|
365 |
510 |
3.3e-9 |
PFAM |
|
low complexity region
|
663 |
674 |
N/A |
INTRINSIC |
|
transmembrane domain
|
860 |
882 |
N/A |
INTRINSIC |
|
coiled coil region
|
915 |
949 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105690
|
| SMART Domains |
Protein: ENSMUSP00000101315
Gene: ENSMUSG00000039936
| Domain | Start | End | E-Value | Type |
|---|
|
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
|
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
|
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
|
PI3Ka
|
496 |
688 |
1.22e-82 |
SMART |
|
PI3Kc
|
778 |
1044 |
5.65e-128 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105691
AA Change: D687G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101316
Gene: ENSMUSG00000039953
AA Change: D687G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
59 |
152 |
2.91e-12 |
SMART |
|
CA
|
175 |
253 |
1.03e-3 |
SMART |
|
Pfam:Laminin_G_3
|
350 |
544 |
1.1e-12 |
PFAM |
|
low complexity region
|
653 |
664 |
N/A |
INTRINSIC |
|
transmembrane domain
|
850 |
872 |
N/A |
INTRINSIC |
|
coiled coil region
|
905 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118704
|
| SMART Domains |
Protein: ENSMUSP00000112863
Gene: ENSMUSG00000039936
| Domain | Start | End | E-Value | Type |
|---|
|
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
|
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
|
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
|
PI3Ka
|
496 |
687 |
1.8e-80 |
SMART |
|
PI3Kc
|
777 |
1043 |
5.65e-128 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122059
|
| SMART Domains |
Protein: ENSMUSP00000113844
Gene: ENSMUSG00000039936
| Domain | Start | End | E-Value | Type |
|---|
|
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
|
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
|
PI3K_C2
|
309 |
408 |
6.47e-23 |
SMART |
|
PI3Ka
|
492 |
681 |
8.56e-87 |
SMART |
|
PI3Kc
|
771 |
1037 |
5.65e-128 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177654
|
| SMART Domains |
Protein: ENSMUSP00000136045
Gene: ENSMUSG00000039936
| Domain | Start | End | E-Value | Type |
|---|
|
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
|
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
|
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
|
PI3Ka
|
496 |
688 |
1.22e-82 |
SMART |
|
PI3Kc
|
778 |
1044 |
5.65e-128 |
SMART |
|
| Meta Mutation Damage Score |
0.0940 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| Validation Efficiency |
99% (79/80) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Juvenile mice homozygous for a null allele show reduced basal excitatory synaptic transmission, abnormal excitatory postsynaptic currents, enhanced NMDA receptor-dependent long term potentiation, and delayed dendritic spine maturation in CA1 hippocampal pyramidal cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
A |
3: 137,773,065 (GRCm39) |
S751R |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,917,169 (GRCm39) |
V1610A |
probably damaging |
Het |
| Actl10 |
A |
T |
2: 154,394,957 (GRCm39) |
H202L |
probably benign |
Het |
| Alox12 |
A |
T |
11: 70,136,761 (GRCm39) |
V489E |
probably damaging |
Het |
| Ap4m1 |
T |
A |
5: 138,170,465 (GRCm39) |
F5I |
probably benign |
Het |
| Atn1 |
T |
C |
6: 124,726,696 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
T |
A |
19: 57,661,608 (GRCm39) |
N529K |
probably benign |
Het |
| B3gntl1 |
C |
T |
11: 121,510,541 (GRCm39) |
G336D |
probably damaging |
Het |
| Bmp1 |
G |
A |
14: 70,727,474 (GRCm39) |
A703V |
probably damaging |
Het |
| Brat1 |
T |
G |
5: 140,704,141 (GRCm39) |
L798R |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,602,458 (GRCm39) |
G1302R |
probably damaging |
Het |
| Cdr2 |
A |
T |
7: 120,557,954 (GRCm39) |
D190E |
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,922,186 (GRCm39) |
|
probably benign |
Het |
| Coro1a |
A |
G |
7: 126,299,812 (GRCm39) |
F337L |
probably benign |
Het |
| Ddx49 |
T |
A |
8: 70,749,575 (GRCm39) |
I252F |
probably damaging |
Het |
| Dennd2a |
T |
A |
6: 39,499,746 (GRCm39) |
D273V |
possibly damaging |
Het |
| Derl2 |
A |
T |
11: 70,905,387 (GRCm39) |
F32I |
probably benign |
Het |
| Dmrta1 |
A |
G |
4: 89,580,276 (GRCm39) |
Y412C |
probably damaging |
Het |
| Dsg1a |
A |
G |
18: 20,466,807 (GRCm39) |
N559S |
probably damaging |
Het |
| Dusp26 |
G |
T |
8: 31,581,987 (GRCm39) |
R27L |
probably benign |
Het |
| Eif2ak3 |
T |
C |
6: 70,862,202 (GRCm39) |
I492T |
probably benign |
Het |
| Exoc7 |
G |
T |
11: 116,191,224 (GRCm39) |
Q219K |
probably damaging |
Het |
| F2r |
T |
C |
13: 95,740,984 (GRCm39) |
T184A |
probably damaging |
Het |
| Fbf1 |
G |
A |
11: 116,043,288 (GRCm39) |
|
probably benign |
Het |
| Fbxo28 |
A |
G |
1: 182,144,580 (GRCm39) |
M328T |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,821,419 (GRCm39) |
D5717E |
possibly damaging |
Het |
| Gnpat |
C |
A |
8: 125,606,964 (GRCm39) |
S373R |
possibly damaging |
Het |
| Golgb1 |
G |
T |
16: 36,695,941 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,523,374 (GRCm39) |
V844A |
probably damaging |
Het |
| Hps1 |
G |
T |
19: 42,759,338 (GRCm39) |
|
probably null |
Het |
| Inppl1 |
G |
T |
7: 101,477,402 (GRCm39) |
|
probably benign |
Het |
| Isca1 |
C |
T |
13: 59,906,699 (GRCm39) |
|
probably null |
Het |
| Itgb2 |
T |
A |
10: 77,378,309 (GRCm39) |
C46S |
probably damaging |
Het |
| Kifc5b |
C |
T |
17: 27,142,056 (GRCm39) |
T178M |
probably benign |
Het |
| Krt80 |
T |
C |
15: 101,250,180 (GRCm39) |
T22A |
probably damaging |
Het |
| L3mbtl2 |
C |
T |
15: 81,552,942 (GRCm39) |
A125V |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,853,198 (GRCm39) |
|
probably benign |
Het |
| Mettl18 |
A |
G |
1: 163,823,910 (GRCm39) |
D77G |
probably benign |
Het |
| Mfsd2a |
A |
G |
4: 122,843,961 (GRCm39) |
L336P |
probably benign |
Het |
| Mgat4b |
A |
G |
11: 50,121,746 (GRCm39) |
|
probably null |
Het |
| Mtmr14 |
C |
T |
6: 113,257,649 (GRCm39) |
R233* |
probably null |
Het |
| Nbea |
T |
C |
3: 55,937,328 (GRCm39) |
Y761C |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,067,571 (GRCm39) |
|
probably null |
Het |
| Nup85 |
T |
G |
11: 115,455,357 (GRCm39) |
M1R |
probably null |
Het |
| Obi1 |
T |
C |
14: 104,716,289 (GRCm39) |
R695G |
possibly damaging |
Het |
| Or6c70 |
T |
A |
10: 129,709,811 (GRCm39) |
I272L |
probably benign |
Het |
| Oxr1 |
T |
A |
15: 41,680,593 (GRCm39) |
M177K |
probably damaging |
Het |
| Pgm2l1 |
A |
G |
7: 99,901,405 (GRCm39) |
Y98C |
probably damaging |
Het |
| Pi4kb |
G |
T |
3: 94,904,115 (GRCm39) |
|
probably benign |
Het |
| Pi4kb |
G |
A |
3: 94,904,116 (GRCm39) |
|
probably benign |
Het |
| Pirb |
T |
A |
7: 3,722,247 (GRCm39) |
S199C |
probably benign |
Het |
| Prss23 |
A |
C |
7: 89,159,055 (GRCm39) |
I338S |
probably damaging |
Het |
| Rapgef3 |
A |
T |
15: 97,655,700 (GRCm39) |
|
probably benign |
Het |
| Rdh7 |
T |
A |
10: 127,720,539 (GRCm39) |
T278S |
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,277,538 (GRCm39) |
D606G |
probably benign |
Het |
| Rxfp1 |
T |
A |
3: 79,559,684 (GRCm39) |
Y379F |
possibly damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,990,853 (GRCm39) |
V514A |
probably benign |
Het |
| Scel |
A |
T |
14: 103,799,954 (GRCm39) |
E202V |
probably benign |
Het |
| Slc25a36 |
G |
A |
9: 96,962,257 (GRCm39) |
A244V |
probably benign |
Het |
| Slc2a13 |
T |
G |
15: 91,400,595 (GRCm39) |
Q209P |
probably damaging |
Het |
| Slc38a6 |
A |
G |
12: 73,399,304 (GRCm39) |
N456S |
probably benign |
Het |
| Slc6a12 |
G |
T |
6: 121,323,957 (GRCm39) |
|
probably null |
Het |
| Spag6l |
T |
C |
16: 16,598,493 (GRCm39) |
I333V |
probably benign |
Het |
| Spen |
G |
A |
4: 141,201,514 (GRCm39) |
A2371V |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,657,466 (GRCm39) |
D366G |
probably damaging |
Het |
| Stk33 |
T |
C |
7: 108,940,696 (GRCm39) |
S5G |
probably benign |
Het |
| Tex56 |
T |
C |
13: 35,116,636 (GRCm39) |
|
probably benign |
Het |
| Tle2 |
T |
C |
10: 81,413,482 (GRCm39) |
L84P |
probably damaging |
Het |
| Tmem14a |
T |
C |
1: 21,296,876 (GRCm39) |
M78T |
probably damaging |
Het |
| Top2b |
T |
A |
14: 16,413,556 (GRCm38) |
|
probably null |
Het |
| Trmt13 |
A |
G |
3: 116,376,299 (GRCm39) |
F364S |
probably damaging |
Het |
| Unkl |
T |
A |
17: 25,449,751 (GRCm39) |
|
probably null |
Het |
| Uvrag |
A |
G |
7: 98,653,926 (GRCm39) |
|
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,949,938 (GRCm39) |
N303I |
probably benign |
Het |
| Vsig10l |
A |
G |
7: 43,114,879 (GRCm39) |
N360S |
probably damaging |
Het |
| Zdhhc25 |
T |
C |
15: 88,485,123 (GRCm39) |
Y153H |
probably damaging |
Het |
| Zfp646 |
T |
C |
7: 127,482,434 (GRCm39) |
V1537A |
possibly damaging |
Het |
| Zfp664 |
T |
A |
5: 124,963,129 (GRCm39) |
Y174* |
probably null |
Het |
|
| Other mutations in Clstn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Clstn1
|
APN |
4 |
149,719,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00585:Clstn1
|
APN |
4 |
149,722,769 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00911:Clstn1
|
APN |
4 |
149,727,648 (GRCm39) |
splice site |
probably benign |
|
|
IGL01394:Clstn1
|
APN |
4 |
149,719,239 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02193:Clstn1
|
APN |
4 |
149,729,809 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02406:Clstn1
|
APN |
4 |
149,711,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02501:Clstn1
|
APN |
4 |
149,716,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02641:Clstn1
|
APN |
4 |
149,713,968 (GRCm39) |
missense |
probably null |
1.00 |
|
R0012:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0020:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0021:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0026:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0031:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0038:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0062:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0064:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0193:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0279:Clstn1
|
UTSW |
4 |
149,728,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Clstn1
|
UTSW |
4 |
149,713,757 (GRCm39) |
splice site |
probably null |
|
|
R0685:Clstn1
|
UTSW |
4 |
149,731,312 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0724:Clstn1
|
UTSW |
4 |
149,728,081 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1016:Clstn1
|
UTSW |
4 |
149,731,286 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1470:Clstn1
|
UTSW |
4 |
149,719,179 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1470:Clstn1
|
UTSW |
4 |
149,719,179 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1622:Clstn1
|
UTSW |
4 |
149,713,864 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1680:Clstn1
|
UTSW |
4 |
149,728,183 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3803:Clstn1
|
UTSW |
4 |
149,719,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3836:Clstn1
|
UTSW |
4 |
149,722,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3838:Clstn1
|
UTSW |
4 |
149,722,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4923:Clstn1
|
UTSW |
4 |
149,729,486 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5024:Clstn1
|
UTSW |
4 |
149,719,751 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5919:Clstn1
|
UTSW |
4 |
149,719,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6269:Clstn1
|
UTSW |
4 |
149,728,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6354:Clstn1
|
UTSW |
4 |
149,727,673 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6382:Clstn1
|
UTSW |
4 |
149,710,577 (GRCm39) |
splice site |
probably null |
|
|
R6573:Clstn1
|
UTSW |
4 |
149,728,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7342:Clstn1
|
UTSW |
4 |
149,713,887 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7457:Clstn1
|
UTSW |
4 |
149,719,373 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7571:Clstn1
|
UTSW |
4 |
149,730,744 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7682:Clstn1
|
UTSW |
4 |
149,710,558 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7738:Clstn1
|
UTSW |
4 |
149,719,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7803:Clstn1
|
UTSW |
4 |
149,716,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7904:Clstn1
|
UTSW |
4 |
149,698,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7918:Clstn1
|
UTSW |
4 |
149,728,508 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8007:Clstn1
|
UTSW |
4 |
149,716,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8821:Clstn1
|
UTSW |
4 |
149,730,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8831:Clstn1
|
UTSW |
4 |
149,730,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9169:Clstn1
|
UTSW |
4 |
149,731,322 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9173:Clstn1
|
UTSW |
4 |
149,710,564 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9463:Clstn1
|
UTSW |
4 |
149,698,564 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9491:Clstn1
|
UTSW |
4 |
149,731,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9615:Clstn1
|
UTSW |
4 |
149,722,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Clstn1
|
UTSW |
4 |
149,719,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCAACGAGGCGGCTTGCATC -3'
(R):5'- TTGAGCTGGCCCTCAAGCTAAATC -3'
Sequencing Primer
(F):5'- CTTGCATCGAGGTGCCC -3'
(R):5'- tgggaggcagaggcagg -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation